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Auricular Malformations Are Driven by Copy Number Variations in a Hierarchical Enhancer Cluster and a Dominant Enhancer Recapitulates Human Pathogenesis

Xiaopeng Xu, Qi Chen,Qingpei Huang,Timothy C Cox, Hao Zhu,Jintian Hu, Xi Han, Ziqiu Meng,Bingqing Wang, Zhiying Liao, Wenxin Xu, Baichuan Xiao, Ruirui Lang, Jiqiang Liu, Jian Huang, Xiaokai Tang, Jinmo Wang, Qiang Li, Ting Liu,Qingguo Zhang, Stylianos E Antonarakis, Jiao Zhang, Xiaoying Fan, Huisheng Liu,Yong-Biao Zhang

Nature communications(2025)

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